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Metadata
ID DOID:0111160
Name camptodactyly-tall stature-scoliosis-hearing loss syndrome
Definition An autosomal genetic disease characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16.
https://rarediseases.info.nih.gov/diseases/10012/camptodactyly-tall-stature-and-hearing-loss-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/17033969
Xrefs

MESH:C537975

OMIM:610474

ORDO:85164

UMLS_CUI:C1864852

Subsets

DO_rare_slim

Synonyms

CATSHL syndrome [EXACT]

Parent Relationships

is_a autosomal genetic disease

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